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Hypoglycemic Encephalopathy
Joseph Junewick, MD FACR
over 7 years ago
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Sjogren-Larrson syndrome

Case Detail

Anatomy: Brain
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 8 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

Child with ichthyosis, developmental delay and spasticity.


Case Images


Diagnosis

Sjogren-Larrson syndrome (SLS)

Findings

Confluent periventricular dysmyelination with posterior sparing, hypointense on T1 and hyperintense on T2 and T2-FLAIR, without significant volume loss.

Discussion

SLS is a rare autosomal recessive neurocutaneous disorder related to accumulation of fatty alcohols (fatty aldehyde dehydrogenase deficiency). Severe neurocognitive deficiency and motor delay are manifest by 1-2 years of age but not progressive after puberty. Other clinical manifestations include cutaneous inflammation with pruritis and ichthyosis, dental enamel hypoplasia, short stature, scoliosis, macular spots and ocular inflammation. MRI initially demonstrates delayed myelination followed by demyelination and mild atrophy. MR spectroscopy shows narrow peaks at 0.9 and 1.3 ppm.

Reference

Zalewska A and Schwarz RA. Sjogren-Larrson Syndrome. eMedicine 2006.



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